A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14082848



Internal ID21267181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29873402..32626512hg38UCSC Ensembl
Innerchr6:29841179..32594289hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg382753111
hg192753111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3115439
Supporting Variants
Samplessample11
Known GenesABCF1, ABHD16A, AGER, AGPAT1, AIF1, APOM, ATAT1, ATF6B, ATP6V1G2, ATP6V1G2-DDX39B, BAG6, BTNL2, C2, C4A, C4B, C4B_2, C6orf10, C6orf136, C6orf15, C6orf25, C6orf47, C6orf48, CCHCR1, CDSN, CFB, CLIC1, CSNK2B, CYP21A1P, CYP21A2, DDAH2, DDR1, DDX39B, DHX16, DPCR1, DXO, EGFL8, EHMT2, FKBPL, FLOT1, GNL1, GPANK1, GPSM3, GTF2H4, HCG17, HCG18, HCG22, HCG23, HCG26, HCG27, HCG4B, HCG8, HCG9, HCP5, HLA-A, HLA-B, HLA-C, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-DRB6, HLA-E, HLA-H, HLA-J, HLA-L, HSPA1A, HSPA1B, HSPA1L, IER3, LOC100507547, LOC102060414, LSM2, LST1, LTA, LTB, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6E, LY6G6F, MCCD1, MDC1, MICA, MICB, MIR1236, MIR4640, MIR4646, MIR6721, MIR6832, MIR6833, MIR6891, MIR877, MRPS18B, MSH5, MSH5-SAPCD1, MUC21, MUC22, NCR3, NELFE, NEU1, NFKBIL1, NOTCH4, NRM, PBX2, POU5F1, PPP1R10, PPP1R11, PPP1R18, PPT2, PPT2-EGFL8, PRR3, PRRC2A, PRRT1, PSORS1C1, PSORS1C2, PSORS1C3, RNF39, RNF5, RNF5P1, RPP21, SAPCD1, SFTA2, SKIV2L, SLC44A4, SNORA38, SNORD117, SNORD48, SNORD52, SNORD84, STK19, TCF19, TNF, TNXA, TNXB, TRIM10, TRIM15, TRIM26, TRIM31, TRIM39, TRIM39-RPP21, TRIM40, TUBB, VARS, VARS2, VWA7, ZBTB12, ZNRD1, ZNRD1-AS1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14082848
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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